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Orphanet References OMIM Gene GeneReviews HGMD HGNC
last update : 26/03/2008
Symbol ETFB
Location 19q13.33
Name glutaric aciduria IIB, early onset
Corresponding gene ETFB
related resource MITOP database
Main clinical features
  • fatal neonatal acidosis and hypoglycemia with a strong 'sweaty feet' odor, and large amounts of glutaric acid in the blood and urine, risk of sudden death
  • cardiomyopathy frequent, as well as in primary disorders of fatty acid oxidation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/organic acid
    Type disease
    Gene product
    Name electron transfer flavoprotein, beta, 27kD (ETFB)